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Page 1
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA. Cetinkaya A, et al. Among authors: sagiroglu ms. Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476657 Free PMC article.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: sagiroglu ms. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Koparir A, Karatas OF, Yuceturk B, Yuksel B, Bayrak AO, Gerdan OF, Sagiroglu MS, Gezdirici A, Kirimtay K, Selcuk E, Karabay A, Creighton CJ, Yuksel A, Ozen M. Koparir A, et al. Among authors: sagiroglu ms. Hum Mol Genet. 2015 Oct 1;24(19):5378-87. doi: 10.1093/hmg/ddv261. Epub 2015 Jul 10. Hum Mol Genet. 2015. PMID: 26162852 Review.
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. Ozkinay F, et al. Am J Med Genet A. 2017 Jun;173(6):1668-1672. doi: 10.1002/ajmg.a.38173. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407396
Whole-exome sequencing revealed two novel mutations in Usher syndrome.
Koparir A, Karatas OF, Atayoglu AT, Yuksel B, Sagiroglu MS, Seven M, Ulucan H, Yuksel A, Ozen M. Koparir A, et al. Among authors: sagiroglu ms. Gene. 2015 Jun 1;563(2):215-8. doi: 10.1016/j.gene.2015.03.060. Epub 2015 Mar 30. Gene. 2015. PMID: 25834954
27 results